KANK1 (KN motif and ankyrin repeat domains 1)

2003-02-01  

Identity

HGNC
KANK1
LOCATION
9p24.3
LOCUSID
23189
ALIAS
ANKRD15,CPSQ2,KANK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23189
MIM: 607704
HGNC: 19309
Ensembl: ENSG00000107104

Variants:

dbSNP: 23189
ClinVar: 23189
TCGA: ENSG00000107104
COSMIC: KANK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107104ENST00000382286Q5W0W2
ENSG00000107104ENST00000382289Q5W0W3
ENSG00000107104ENST00000382293Q14678
ENSG00000107104ENST00000382297Q14678
ENSG00000107104ENST00000382303Q14678
ENSG00000107104ENST00000619269Q14678

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
259614572015KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
184581602008Kank regulates RhoA-dependent formation of actin stress fibers and cell migration via 14-3-3 in PI3K-Akt signaling.38
274104762016Talin-KANK1 interaction controls the recruitment of cortical microtubule stabilizing complexes to focal adhesions.35
198345032009Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.26
121338302002A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma.25
220840922011Effects of brefeldin A-inhibited guanine nucleotide-exchange (BIG) 1 and KANK1 proteins on cell polarity and directed migration during wound healing.22
251873742015Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.19
195062192009Risk alleles for multiple sclerosis in multiplex families.18
201648542010KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia.14

Citation

Dessen P

KANK1 (KN motif and ankyrin repeat domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/645/kank1